ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4906G>C (p.Glu1636Gln)

gnomAD frequency: 0.00003  dbSNP: rs139388954
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507911 SCV001713751 uncertain significance not provided 2020-09-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488305 SCV002793091 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507911 SCV002981227 uncertain significance not provided 2022-02-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1636 of the C3 protein (p.Glu1636Gln). This variant is present in population databases (rs139388954, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with C3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163114). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001507911 SCV001743325 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001507911 SCV001975153 uncertain significance not provided no assertion criteria provided clinical testing

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